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    B2M beta-2-microglobulin [ Homo sapiens (human) ]

    Gene ID: 567, updated on 8-Oct-2018

    Summary

    Official Symbol
    B2Mprovided by HGNC
    Official Full Name
    beta-2-microglobulinprovided by HGNC
    Primary source
    HGNC:HGNC:914
    See related
    Ensembl:ENSG00000166710 MIM:109700; Vega:OTTHUMG00000131247
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMD43
    Summary
    This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]
    Expression
    Ubiquitous expression in spleen (RPKM 1527.0), lymph node (RPKM 1335.3) and 24 other tissues See more
    Orthologs

    Genomic context

    See B2M in Genome Data Viewer
    Location:
    15q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (44711487..44718159)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45003685..45010357)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3 subunit J Neighboring gene SPG11, spatacsin vesicle trafficking associated Neighboring gene PAT1 homolog 2 Neighboring gene ring finger protein 4 pseudogene Neighboring gene tripartite motif containing 69

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of beta-2-microglobulin (B2M) PubMed
    Tat tat HIV-1 Tat represses transcription of the beta 2-microglobulin (B2M) promoter, thereby downregulating B2M expression, suggesting a mechanism by which HIV-1 could prevent cell surface expression of the MHC class I complex and avoid immune detection PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of beta-2-microglobulin (B2M) PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    antigen processing and presentation of endogenous peptide antigen via MHC class I IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
     
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to iron ion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular response to iron(III) ion IEA
    Inferred from Electronic Annotation
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    iron ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    iron ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of T cell cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ferrous iron binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of receptor binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transferrin receptor binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein refolding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of defense response to virus by virus TAS
    Traceable Author Statement
    more info
     
    regulation of erythrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    regulation of iron ion import IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to molecule of bacterial origin IEA
    Inferred from Electronic Annotation
    more info
     
    retina homeostasis HEP PubMed 
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MHC class I protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    early endosome lumen TAS
    Traceable Author Statement
    more info
     
    early endosome membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    focal adhesion HDA PubMed 
    membrane HDA PubMed 
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    recycling endosome membrane TAS
    Traceable Author Statement
    more info
     
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    beta-2-microglobulin
    Names
    beta chain of MHC class I molecules
    beta-2-microglobin

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012920.2 RefSeqGene

      Range
      5041..12401
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1215

    mRNA and Protein(s)

    1. NM_004048.3NP_004039.1  beta-2-microglobulin precursor

      See identical proteins and their annotated locations for NP_004039.1

      Status: REVIEWED

      Source sequence(s)
      AC122108, AK315776, BC032589, BE645555
      Consensus CDS
      CCDS10113.1
      UniProtKB/Swiss-Prot
      P61769
      Related
      ENSP00000497910.1, OTTHUMP00000161912, ENST00000648006.1
      Conserved Domains (1) summary
      cd05770
      Location:24116
      IgC_beta2m; Class I major histocompatibility complex (MHC) beta2-microglobulin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

      Range
      44711487..44718159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254549.3XP_005254606.1  beta-2-microglobulin isoform X1

      See identical proteins and their annotated locations for XP_005254606.1

      Conserved Domains (1) summary
      cd05770
      Location:24115
      IgC_beta2m; Class I major histocompatibility complex (MHC) beta2-microglobulin

    RNA

    1. XR_002957658.1 RNA Sequence

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187605.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      34836..41507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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